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Year : 2015  |  Volume : 2  |  Issue : 4  |  Page : 234-236

Mauriac syndrome, a rare complication of insulin dependent diabetes mellitus

Department of Paediatrics, MM Institute of Medical Sciences and Research, Mullana (Ambala), Haryana, India

Date of Submission19-Jun-2015
Date of Decision17-Oct-2015
Date of Acceptance17-Oct-2015
Date of Web Publication2-Dec-2015

Correspondence Address:
Mrigind Singh
Hostel No. 9, MM Institute of Medical Sciences and Research, Mullana, Ambala - 133 207, Haryana
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2347-9906.170900

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Mauriac syndrome (MS) is an uncommon complication of uncontrolled type 1 diabetes mellitus. The syndrome comprises of the following features: Growth retardation, cushingoid facies, hepatomegaly, osteopenia, sarcopenia of proximal large muscles, periodontitis, and delayed puberty. Sometimes, there is evidence of retinopathy and nephropathy too. We report here a case of diabetic retinopathy in an adolescent with a clinical feature of a rare entity, MS.

Keywords: Mauriac syndrome, retinopathy, type 1 diabetes mellitus

How to cite this article:
Singh M, Maini B, Mago C, Nawaz HH, Bhardwaj AK. Mauriac syndrome, a rare complication of insulin dependent diabetes mellitus. J Obes Metab Res 2015;2:234-6

How to cite this URL:
Singh M, Maini B, Mago C, Nawaz HH, Bhardwaj AK. Mauriac syndrome, a rare complication of insulin dependent diabetes mellitus. J Obes Metab Res [serial online] 2015 [cited 2020 Feb 28];2:234-6. Available from: http://www.jomrjournal.org/text.asp?2015/2/4/234/170900

  Introduction Top

Mauriac syndrome (MS) is an uncommon complication, seen in patients with diabetes mellitus type 1 (T1DM). The syndrome includes short stature, glycogen-laden enlarged liver, limited joint mobility, sarcopenia of proximal muscle osteopenia, and delayed puberty. This syndrome is also associated with early development of diabetic microvascular complications such as retinopathy and nephropathy.[1],[2] There can be forme fruste manifestations of the syndrome too. A closer scrutiny and examination of an uncontrolled T1DM patient can lead to more findings of the syndrome.

  Case Report Top

A 15-year-old-male, a known case of T1DM, was admitted to our indoor department with a decreased vision in the right eye, a cushingoid swelling of the face, abdominal discomfort, and weakness in lower limbs. As a case of poorly controlled T1DM, he had received injectable form of insulin for last the 10 years. At the time of admission, he was receiving, 1U of insulin/kg totally. The records revealed fluctuating and poorly controlled sugar levels, especially with multiple episodes of hypoglycemia. On general examination, he had a symmetrical short stature (height 132 cm, <3 percentile for age), moon face [Figure 1]a, protuberant abdomen, and Tanner stage 1 sexual maturity (delayed for age). Body mass index was normal (18.5 kg/m 2). The eye examination revealed decreased visual acuity in the right eye (6/24), and the retinal fundus showed papilledema in the right eye with other features of retinal vasculopathy (aneurysms) and macular edema [Figure 1]b. He had also mild proximal muscles weakness in the lower limbs. Investigations showed normal hemogram (hemoglobin-11.4 g%, total leucocyte count - 9400/mm 3, and platelet count - 1.8 lac/mm 3). He had normal liver and renal function test. Glycosylated hemoglobin (HbA1C) level was 10.6%. The thyroid function tests and celiac disease screening were carried out.[3] The tests were found to be normal. Due to the unpayable cost of endocrine tests, these were not carried out. Ultrasonography (USG) of the abdomen revealed hepatomegaly with altered echotexture of the liver. Magnetic resonance imaging of brain for other causes of papilledema and study of optic nerve didn't reveal any abnormality. The bone age was proportional to the height age. However significant osteopenia was appreciated on X-ray of long bones [Figure 1]c. The patient was put on a strict dietary management, and the injectible insulin dose was calcium and Vitamin D3 was done supplementation along with physiotherapy and eye care.
Figure 1: (a) Moon face appearance (b) papilledema (arrow) with macular edema (c) X-ray of verterbral column showing osteopenia

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At the first follow-up, now the patient had a better control of blood sugar, which continued with regular follow-ups. At the 3 months follow-up visit, he had improvement in his muscle weakness, the vision had improved slightly, and there was no progression of retinal lesions.

  Discussion Top

Mauriac described this syndrome (MS) for the first time as early as in 1930.[4] Previously it was described in association with the use of short-acting insulins. However, now it is uncommon due to longer acting insulins.[2] Our patient had many features of MS namely, short stature, delayed sexual maturity, moon face appearance, and hepatomegaly (with altered echotexture on ultrasonogram). The presence of retinopathy also is an important corroborating feature, as this entity is associated with early microvasculopathy.[1],[2] Altered liver echotexture on USG is believed to be due to glycogen-laden hepatocytes. Our case had normal liver enzyme levels although few reports mention increased levels in cases of MS.[4] Our patient didn't have features suggestive of other forms of retinopathy.

On the basis of the presence or absence of obesity, two different types of MS have been described. In the obese MS, the poor glycemic control involves wide fluctuation between hyper and hypoglycemia suggestive of a pattern of over and underinsulization of glucose, respectively. A second form of MS occurs in non-obese patients who were inadequately insulinized without a history of alternating hypoglycemia and ketoacidosis.[5],[6] The actual cause of this type is not known. Probably, it is a combination of factors including qualitative and quantitative defects in glucose uptake and utilization in the tissues. Decreased insulin-like growth factor-1 and growth hormone levels, along with poor bioactivity of these hormones, hormone receptors dysfunction, insulin deficiency and/or autoimmune factors.[7]

The prognosis is good with improved glycemic control, and there is some reversibility of the growth failure and hepatomegaly.[1],[6],[8] The catch up growth may not complete in some cases because adult height is compromised.[9] The overall prognosis is also guided by the presence or absence of microvascular complications at the time of the MS diagnosis.

This case report highlights some important facts in Indian context. Due to a large population with T1DM having a poor health access, many adolescents diabetics, are vulnerable to the effects of improper insulinization. India has a very large population of adolescents than ever before. With increased prevalence of T1DM, physicians should monitor the diabetes in adolescents with more thoroughness for the presence of MS. There is also a need for more easy access to the advanced healthcare for T1DM children, particularly in the rural areas. We must include proper and thorough monitoring of growth and microvascular complications. Such measures will ensure proper and meaningful adulthood for these adolescents as well as less economic load on the economy. Recently, Nagesh and Kalra have emphasized the profile of T1DM in resource-challenged settings and the need to address proper glycemic control, adequate nutrition/vitamins, and educational programs.[10]

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Mahesh S, Karp RJ, Castells S, Quintos JB. Mauriac syndrome in a 3-year-old boy. Endocr Pract 2007;13:63-6.  Back to cited text no. 1
Kim MS, Quintos JB. Mauriac syndrome: Growth failure and type 1 diabetes mellitus. Pediatr Endocrinol Rev 2008;5 Suppl 4:989-93.  Back to cited text no. 2
Holmes GK. Coeliac disease and Type 1 diabetes mellitus – The case for screening. Diabet Med 2001;18:169-77.  Back to cited text no. 3
Mauriac P. Gros ventre, hepatomegalie, troubles de croissance chez les enfants diabetiques traits depuis plusiers annee par l'insuline. Gaz Hebd Med Bordeaux 1930;26:402-10.  Back to cited text no. 4
Rosenbloom AL, Silverstein JH. Diabetes in the child and adolescent. In: Lifshitz F, editor. pediatric endocrinology. New York, NY, USA: Marcel Dekker; 2003. p. 621-2.  Back to cited text no. 5
Lee RG, Bode HH. Stunted growth and hepatomegaly in diabetes mellitus. J Pediatr 1977;91:82-4.  Back to cited text no. 6
Hunger-Battefeld W, Fath K, Mandecka A, Kiehntopf M, Kloos C, Müller UA, et al. Prevalence of polyglandular autoimmune syndrome in patients with diabetes mellitus type 1. Med Klin (Munich) 2009;104:183-91.  Back to cited text no. 7
Dorchy H, van Vliet G, Toussaint D, Ketelbant-Balasse P, Loeb H. Mauriac syndrome: Three cases with retinal angiofluorescein study. Diabete Metab 1979;5:195-200.  Back to cited text no. 8
Daneman D, Drash AL, Lobes LA, Becker DJ, Baker LM, Travis LB. Progressive retinopathy with improved control in diabetic dwarfism (Mauriac's syndrome) Diabetes Care 1981;4:360-5.  Back to cited text no. 9
Nagesh VS, Kalra S. Type 1 diabetes: Syndromes in resource-challenged settings. J Pak Med Assoc 2015;65:681-5.  Back to cited text no. 10


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